【摘要】 目的探讨阵发性睡眠性血红蛋白尿(PNH)与干扰素-r基因(IFN-r)多态性基因多态性和IFN-r血中表达水平的相关性。旨在研究此基因多态性在PNH发病机制中的作用。方法对36例成人PNH患者和40例健康对照组外周血标本,采用序列特异性引物聚合酶链反应(PCR-SSP)技术,分别检测单个核细胞中的IFN-r基因多态性的变化。结果结果表明:PNH组IFN-r(874T)等位基因频率(33.33%)显著高于对照组IFN-r(10.0%),P<0.05;AA组IFN-r含量(1.760±0.108)显著高于对照组(0.721±0.065),P<0.05,两组之间比较差异有显著性意义,提示该等位基因频率增高和血清IFN-r的蛋白表达与PNH相关。结论我国北方地区汉族人IFN-r基因874A位点的多态性和血清IFN-r的蛋白表达水平显著升高,并在PNH的疾病病程中起重要作用,IFN-r启动子基因874T可能是PNH易感性基因之一。更多还原

【Abstract】 Objective:To investigate the relationship between the levels of Interferon-r(IFN-r),IFN-r gene polymorphism and paroxysmal nocturnal hemoglobinuria.Methods:The level of plasma IFN-r was measured by ELISA,and PCR-SSP was used to detect the polymorphism of IFN-r 874T and 874A gene.Results:Level of IFN-r in study group(1.760±0.108) μg/L was significantly higher than the control group(0.721±0.065)μg/L,P<0.05;Frequencies of IFN-r 874T genotype in 33.33 % of 36 patients and 10.0% of 40 controls were significantly higher than those in healthy controls(P<0.0).Conclusion:The level of plasma IFN-r and IFN-r 874T Polymorphism increases in patients with PNH.The differences between them have statistical significance;Our results indicate that the change of genic polymorphism of cytokine is correlated with PNH.The predisposing IFN-r(+874T) genetic locus may be allelomorphic gene of PNH.IFN-r genotype were significantly related to patients with PNH.IFN-r genotype can have some function susceptibility to PNH.更多还原